Canonical Allele Identifier: CA144911

Gene: RSPH1

Linked Data

• ClinVar Variation Id: 66990
• ClinVar RCV Id: RCV000057512 ; RCV000190924 ; RCV000467674 ; RCV000726589 ; RCV003974945
• dbSNP Id: rs151107532
• ExAC: 21:43906573 T / G
• gnomAD v2: 21-43906573-T-G
• gnomAD v3: 21-42486463-T-G
• gnomAD v4: 21-42486463-T-G
• MyVariant Identifiers: chr21:g.43906573T>G (hg19) ; chr21:g.42486463T>G (hg38)
• PubMed: PMID:20301301 ; PMID:23993197 ; PMID:24568568

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42486463T>G , CM000683.2:g.42486463T>G	GRCh38
NC_000021.8:g.43906573T>G , CM000683.1:g.43906573T>G	GRCh37
NC_000021.7:g.42779642T>G	NCBI36
NG_034257.1:g.14892A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291536.8:c.275-2A>C MANE Select	ENSP00000291536.3:n.275-2A>C
ENST00000291536.7:c.275-2A>C	ENSP00000291536.3:n.275-2A>C
ENST00000398352.3:c.161-2A>C	ENSP00000381395.3:n.161-2A>C
ENST00000493019.1:n.335-2A>C
NM_001286506.1:c.161-2A>C	NP_001273435.1:n.161-2A>C
NM_080860.3:c.275-2A>C	NP_543136.1:n.275-2A>C
XM_005261208.1:c.68-2A>C	XP_005261265.1:n.68-2A>C
XM_011529786.1:c.275-2A>C	XP_011528088.1:n.275-2A>C
XM_005261208.2:c.68-2A>C	XP_005261265.1:n.68-2A>C
NM_080860.4:c.275-2A>C MANE Select	NP_543136.1:n.275-2A>C
NM_001286506.2:c.161-2A>C	NP_001273435.1:n.161-2A>C